Knowledge discovery in large databases (KDD) is being performed in several application domains, for example, the analysis of sales data, and is expected to be applied to other domains. We propose a KDD approach to multipoint linkage analysis, which is a way of ordering loci on a chromosome. Strict multipoint linkage analysis based on maximum likelihood estimation is a computationally tough problem. So far various kinds of approximate methods have been implemented. Our method based on the discovery of association between genetic recombinations is so different from others that it is useful to recheck the result of them. In this paper, we describe how to apply the framework of association rule discovery to linkage analysis, and also discuss that filtering input data and interpretation of discovered rules after data mining are practically important as well as data mining process itself.
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Nat Commun
January 2025
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.
Pubertal timing is highly variable and is associated with long-term health outcomes. Phenotypes associated with pubertal timing include age at menarche, age at voice break, age at first facial hair and growth spurt, and pubertal timing seems to have a shared genetic architecture between the sexes. However, puberty phenotypes have primarily been assessed separately, failing to account for shared genetics, which limits the reliability of the purported health implications.
View Article and Find Full Text PDFEpilepsy Behav
January 2025
Department of Pharmacy, the Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou 450015, China. Electronic address:
Objective: The study aimed to investigate the causal relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and epilepsy using Mendelian randomization (MR), thereby addressing confounding and reverse causality issues in observational studies.
Methods: We employed a two-sample bidirectional MR design utilizing summary-level data from the IEU OpenGWAS project. Serum 25(OH)D levels were analyzed using the publicly available dataset ebi-a-GCST90000618, which included 496,946 European samples and 68,960,93 SNPs.
Cancer Epidemiol
January 2025
Virus, Lifestyle and Genes, Danish Cancer Institute, Copenhagen, Denmark; Department of Gynecology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address:
Objectives: To evaluate the association between polycystic ovary syndrome (PCOS) and the risk of differentiated and papillary thyroid cancer.
Methods: We included all individuals assigned female at birth and born during 1962-1996 in Denmark. Information on vital status, PCOS- and cancer diagnoses, and covariates were attained from various Danish nationwide registers.
Ecotoxicol Environ Saf
January 2025
Gansu Key Laboratory of Biomonitoring and Bioremediation for Environmental Pollution, School of Life Sciences, Lanzhou University, Lanzhou 730000, China. Electronic address:
Habitat fragmentation represents a multifaceted global conservation threat, exerting both direct and indirect effects on individual animals and communities. Reptiles, particularly smaller species with limited migratory abilities, are especially vulnerable to these changes. This study examines how small reptiles adapt their life history strategies in fragmented habitats and determines whether their responses are primarily due to phenotypic plasticity or genetic adaptation.
View Article and Find Full Text PDFAdv Sci (Weinh)
January 2025
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, Jiangsu, 210029, China.
Patellar dysplasia (PD) can cause patellar dislocation and subsequent osteoarthritis (OA) development. Herein, a novel ABCA6 mutation contributing to a four-generation family with familiar patellar dysplasia (FPD) is identified. In this study, whole exome sequencing (WES) and genetic linkage analysis across a four-generation lineage presenting with six cases of FPD are conducted.
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